Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
MetadataShow full item record
© 2015 American Neurological Association. We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole-exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permease regulator-like 3 (NPRL3). NPRL3 is a component of GAP Activity Towards Rags 1, a negative regulator of the mammalian target of rapamycin complex 1 signaling pathway. Immunostaining of resected brain tissue demonstrated mammalian target of rapamycin activation. Screening of 52 unrelated individuals with FCD identified 2 additional patients with FCDIIa and germline NPRL3 mutations. Similar to DEPDC5, NPRL3 mutations may be considered as causal variants in patients with FCD or magnetic resonance imaging-negative focal epilepsy.
Showing items related by title, author, creator and subject.
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancersYip, S.; Butterfield, Y.; Morozova, O.; Chittaranjan, S.; Blough, M.; An, J.; Birol, I.; Chesnelong, C.; Chiu, R.; Chuah, E.; Corbett, R.; Docking, R.; Firme, M.; Hirst, M.; Jackman, S.; Karsan, A.; Li, H.; Louis, D.; Maslova, A.; Moore, R.; Moradian, A.; Mungall, K.; Perizzolo, M.; Qian, J.; Roldan, G.; Smith, E.; Tamura-Wells, J.; Thiessen, N.; Varhol, Richard; Weiss, S.; Wu, W.; Young, S.; Zhao, Y.; Mungall, A.; Jones, S.; Morin, G.; Chan, J.; Cairncross, J.; Marra, M. (2012)Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function ...
Population-based detection of lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial testSehofield, L.; Watson, N.; Grieu, F.; Wei, Q.; Zeps, Nikolajs; Harvey, J.; Stewart, C.; Abclo, M.; Goldblatt, J.; Iacopetta, B. (2009)Approximately 1-2% of colorectal cancers (CRC) arise because of germline mutations in UNA mismatch repair genes, referred to as Lynch syndrome. These tumours show microsatellite instability (MSI) and loss of expression ...
In vitro characterization of the a-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (a2)]Qadah, T.; Finlayson, J.; Ghassemifar, Reza (2012)The a-thalassemias are a group of disorders occurring as a result of decreased synthesis of a-globin chains, most commonly due to deletions of a-globin genes. Detection of a-thalassemia (a-thal) caused by point mutations ...